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Rare Mutations Drive Cystic Fibrosis in Caribbean

Cystic Fibrosis (CF) in Puerto Rico and the Dominican Republic is dominated by unusual gene mutations not often observed in previously studied CF populations. Majority of Dominican patients had no detectable mutations at all in the gene that is thought to drive 95 percent of CF cases.

Gene Discovery Solves 51-Year-Old Clinical Mystery

The cause of the pancreatic inflammation plaguing a rural California family has been a medical mystery since it was first described 51 years ago. Now genetic sleuth-work by researchers from UC San Francisco and the University of Chicago has solved the mystery: pointing to a novel gene mutation as the cause of the family’s inherited pancreatitis.

pancreas tissue science image